Sugi Variant

Sugi Variant/YARS2

YARS2 — 351 ClinVar variants

All ClinVar germline YARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

20 Pathogenic · 6 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 19 Conflicting · 10 Benign · 13 Benign/Likely benign · 114 Likely benign · 158 Uncertain significance

Full YARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 9

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 108

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 26

The independent predictors disagree with each other — read with care.

All YARS2 variants

Pathogenic 20

Pathogenic/Likely pathogenic 6

  • c.948_957del Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Asp311Glu Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2 ⚠
  • p.Glu212Ter Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Lys281fs Multiple submitters YARS2-related disorder
  • p.Phe52Leu Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2 ⚠
  • p.Ser33Ter Multiple submitters YARS2-related disorder

Likely pathogenic 11

Conflicting classifications of pathogenicity 19

  • c.1275-2dup Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • c.780-11T>C Single submitter
  • p.Arg194= Single submitter
  • p.Arg427Gln Single submitter ⚠
  • p.Asp295Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp312His Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2 ⚠
  • p.Cys78= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Glu60= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Gly68Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile464Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu273= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Leu61Val Single submitter ⚠
  • p.Lys179Gln Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2 ⚠
  • p.Lys209Arg Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2 ⚠
  • p.Phe159= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Pro310= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Pro310Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser10= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Thr270= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 2

Benign 10

Benign/Likely benign 13

  • c.1104-16dup Multiple submitters
  • c.*162A>G Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • c.*191T>C Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • c.*209G>C Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • c.*406C>T Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • c.*643G>A Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Ala35Asp Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Arg342= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Gln452= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Gly114= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Gly191Val Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Gly97= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2
  • p.Val290= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 2

Likely benign 114

Uncertain significance 158